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NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000657387.1

Allele description [Variation Report for NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)]

NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)
HGVS:
  • NC_000003.12:g.10149854_10149865delinsTC
  • NG_008212.3:g.13220_13231delinsTC
  • NG_046756.1:g.7616_7627delinsTC
  • NM_000551.4:c.531_542delinsTCMANE SELECT
  • NM_001354723.2:c.*85_*96delinsTC
  • NM_198156.3:c.408_419delinsTC
  • NP_000542.1:p.Arg177fs
  • NP_937799.1:p.Arg136fs
  • LRG_322:g.13220_13231delinsTC
  • NC_000003.11:g.10191538_10191549delinsTC
  • NM_000551.3:c.531_542delACTGGACATCGTinsTC
Protein change:
R136fs
Links:
dbSNP: rs1553620331
NCBI 1000 Genomes Browser:
rs1553620331
Molecular consequence:
  • NM_001354723.2:c.*85_*96delinsTC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.531_542delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.408_419delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779120GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 14, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000779120.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This combined deletion and insertion is denoted VHL c.531_542del12insTC at the cDNA level and p.Arg177SerfsX22 (R177SfsX22) at the protein level. The surrounding sequence is GGAG[del12][insTC]CAGG. The variant causes a frameshift which changes an Arginine to a Serine at codon 177, and creates a premature stop codon at position 22 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene is located within the alpha domain, involved in Elongin C binding, and the beta domain, which interacts with the ODD domain of HIF-alpha subunits (Yuen 2009). Based on the currently available information, we consider VHL c.531_542del12insTC to be a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023